A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv590689



Internal ID16378098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:75403949..75568509hg38UCSC Ensembl
Innerchr3:75453100..75617660hg19UCSC Ensembl
Innerchr3:75535790..75700350hg18UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg38164561
hg19164561
hg18164561
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8382n54
Supporting Variantsnssv965754, nssv965755
Samples
Known GenesFAM86DP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv590689
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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